A new study from researchers at Boston Children’s Hospital is looking at how new ways of testing infants for genetic diseases impacts their families.
The study, called BabySeq — referring to sequencing of a baby’s genome, or the entire set of genetic instructions that make them up — is the second version of the study. The first one, which ran from 2013 to 2019, received good results, but managed largely to recruit families who were white and wealthier, said Ingrid Holm, who is a co-lead investigator on the new study and previously worked as a co-investigator on the original.
The new study will prioritize working with families of color, who were underrepresented in the first version of the research.Genomic sequencing can be used to identify issues in an individual’s genome that can cause genetic disorders like cystic fibrosis. In adults, certain variants or differences in someone’s genome can lead to conditions like Alzheimer’s or breast cancer.
The new BabySeq study compares how the families whose babies receive genome sequencing are affected by the results compared with the families of babies who don’t. It is currently being run in the Boston Children’s Primary Care Center, as well as clinics in New York City; Birmingham, Alabama; and Detroit, Michigan.
Genomic sequencing of infants expands on the existing techniques that are currently used to screen newborns for health risks. Currently doctors do a so-called “heel stick,” where they take a blood sample from an infant’s heel and use it to test for about 60 disorders. Full genomic sequencing could identify potential issues in any part of the child’s genetic code.
Like the first iteration of the study, Holm said results will have a limited focus on the genetic diseases, due to the number of families receiving results. Rather, it will focus more on the impacts on and opinions of the baby’s family members receiving the information, although medical impacts will also be considered.
“We compare [the families of babies who got sequenced] to those who didn’t, and look to see is there increased anxiety or depression? Increased issues between vulnerability and issues between the parents and how the parents view their children? Are we changing things in that regard?” Holm said.
The first round of the BabySeq study also looked at those issues and, Holm said, found few negative impacts on the families.
Holm said work like the BabySeq study aims to consider what genomic sequencing in infants might look like as a more universal part of newborn screenings, so researchers have to understand how all groups feel about the techniques, including communities of color who often have limited trust in medical research and healthcare systems.
“Eventually, if this type of sequencing is going to be incorporated into public health initiatives, it’s really important to understand what people from all backgrounds think about this,” she said.
In designing the new version of BabySeq, Holm and her team consulted a community advisory board of parents at the clinics where the study is running to determine the best way to recruit families from diverse backgrounds while ensuring their comfort.
She said elements of the design of the new generation of study — like working more with pediatricians to recruit families and only drawing blood for sampling from the group of children in the study who were actually receiving genomic testing — were included specifically based on comments from the advisory boards.
“They just have been really absolutely fabulous in terms of advising us. We’ve done things differently based on their input,” Holm said.
Dr. F. Sessions Cole, a professor of pediatrics at the Washington University School of Medicine in St. Louis, said he hopes the design of the new BabySeq study can inform future research to make sure a diverse selection of baby’s genomic sequences can be documented and better inform research and care in the future.
“If you don’t have a lot of indigenous peoples, Black, Hispanic, rural individuals being sequenced, you don’t have a reference base with which to evaluate the impact of specific genomic sequences,” said Cole, who is unaffiliated with the BabySeq study but has previously worked with Holm.
While the BabySeq study is more focused on the mental and emotional impact on families, if implemented more widely, the expanded use of the sequencing could help identify genetic diseases that might not show symptoms at birth, but could present challenges after weeks or months, particularly in comparison to the existing tests that are limited in what they look for.
“I think we all recognize — those of us who take care of babies — that while [the existing heel stick] program has been terrific, it doesn’t address recognition of babies who have diseases that are not screened for,” Cole said. “The advantage of whole genome sequencing is that it is an unbiased screening program. That is to say it is not focused on a list of 40 to 60 diseases.”
Using information about a baby’s genome to identify health risks isn’t new. Studies have looked at the impact of genomic sequencing in the care of newborns in neonatal intensive care units, but the new BabySeq study instead considers the use of the tool for any newborn, even those who don’t need intensive care at birth.
Generally, Cole said, further work around the genome sequencing of babies will be useful, but the process will be one in which the medical community learns as it goes.
He pointed to the about 7,500 genes related to genetic diseases documented in the Online Mendelian Inheritance in Man database — what he called the bible for this sort of research — but there are 20,000 genes in the human genome.
“There are likely a lot more genetic diseases out there, still to be discovered,” Cole said. “Sharing the information about genetic diseases as we know will be terrific and will help increase and improve the understanding of prognosis and outcome, but we’ll be learning along the way.”
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